NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 19, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000579226.5

Allele description [Variation Report for NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter)]

NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter)

Gene:

TCF12:transcription factor 12 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.3

Genomic location:

Preferred name:

NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter)

HGVS:

NC_000015.10:g.57251363G>A
NG_033851.2:g.338274G>A
NM_001306219.3:c.618G>A
NM_001306220.3:c.420G>A
NM_001322151.2:c.1128G>A
NM_001322152.2:c.1128G>A
NM_001322154.2:c.471G>A
NM_001322156.2:c.954G>A
NM_001322157.3:c.1128G>A
NM_001322158.2:c.954G>A
NM_001322159.3:c.1128G>A
NM_001322161.2:c.1128G>A
NM_001322162.2:c.1128G>A
NM_001322164.2:c.1164G>A
NM_001322165.2:c.1128G>A
NM_003205.4:c.1128G>A
NM_207036.2:c.1128G>A
NM_207037.2:c.1128G>AMANE SELECT
NM_207038.2:c.1128G>A
NM_207040.2:c.618G>A
NP_001293148.1:p.Trp206Ter
NP_001293149.1:p.Trp140Ter
NP_001309080.1:p.Trp376Ter
NP_001309081.1:p.Trp376Ter
NP_001309083.1:p.Trp157Ter
NP_001309085.1:p.Trp318Ter
NP_001309086.1:p.Trp376Ter
NP_001309087.1:p.Trp318Ter
NP_001309088.1:p.Trp376Ter
NP_001309090.1:p.Trp376Ter
NP_001309091.1:p.Trp376Ter
NP_001309093.1:p.Trp388Ter
NP_001309094.1:p.Trp376Ter
NP_003196.1:p.Trp376Ter
NP_996919.1:p.Trp376Ter
NP_996920.1:p.Trp376Ter
NP_996921.1:p.Trp376Ter
NP_996923.1:p.Trp206Ter
NC_000015.9:g.57543561G>A
NM_207036.1:c.1128G>A

Protein change:

W140*

Links:

dbSNP: rs1555409014

NCBI 1000 Genomes Browser:

rs1555409014

Molecular consequence:

NM_001306219.3:c.618G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001306220.3:c.420G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322151.2:c.1128G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322152.2:c.1128G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322154.2:c.471G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322156.2:c.954G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322157.3:c.1128G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322158.2:c.954G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322159.3:c.1128G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322161.2:c.1128G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322162.2:c.1128G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322164.2:c.1164G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001322165.2:c.1128G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_003205.4:c.1128G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_207036.2:c.1128G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_207037.2:c.1128G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_207038.2:c.1128G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_207040.2:c.618G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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non-ribosomal peptide synthetase, partial [Bacillus sonorensis]
non-ribosomal peptide synthetase, partial [Bacillus sonorensis]
gi|2651070152|ref|WP_326074117.1|

Protein
Rattus norvegicus coiled-coil domain containing 82 (Ccdc82), mRNA
Rattus norvegicus coiled-coil domain containing 82 (Ccdc82), mRNA
gi|56090412|ref|NM_001007660.1|

Nucleotide
Pseudomonas straminea strain CICR-DCPPC16 16S ribosomal RNA gene, partial sequen...
Pseudomonas straminea strain CICR-DCPPC16 16S ribosomal RNA gene, partial sequence
gi|1321370176|gb|MG757834.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000681253	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Feb 27, 2020)	germline	clinical testing	Citation Link,
SCV002016858	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 19, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000681253

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Feb 27, 2020)

germline

clinical testing

Citation Link,

SCV002016858

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 19, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From GeneDx, SCV000681253.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002016858.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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